Incidental Mutation 'R0116:Nrap'
| ID |
20855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrap
|
| Ensembl Gene |
ENSMUSG00000049134 |
| Gene Name |
nebulin-related anchoring protein |
| Synonyms |
|
| MMRRC Submission |
038402-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0116 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
19 |
| Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56343978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 724
(Y724C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128196
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000095947]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
| AlphaFold |
Q80XB4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040711
AA Change: Y724C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134
AA Change: Y724C
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
|
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
|
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
|
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
|
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
|
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
|
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
|
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
|
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
|
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
|
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
|
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
|
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
|
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
|
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
|
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
|
NEBU
|
932 |
962 |
4e-6 |
SMART |
|
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
|
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
|
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
|
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
|
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
|
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
|
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
|
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
|
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
|
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
|
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
|
NEBU
|
1385 |
1415 |
1.76e-2 |
SMART |
|
NEBU
|
1418 |
1448 |
2.09e0 |
SMART |
|
NEBU
|
1453 |
1483 |
6.4e-5 |
SMART |
|
NEBU
|
1489 |
1519 |
8.63e-1 |
SMART |
|
NEBU
|
1527 |
1557 |
1.33e-2 |
SMART |
|
NEBU
|
1562 |
1592 |
1.84e-5 |
SMART |
|
NEBU
|
1593 |
1623 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073536
AA Change: Y759C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134
AA Change: Y759C
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
|
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
|
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
|
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
|
NEBU
|
520 |
550 |
1.73e-10 |
SMART |
|
NEBU
|
556 |
586 |
8.12e-7 |
SMART |
|
NEBU
|
590 |
620 |
1.73e-1 |
SMART |
|
NEBU
|
625 |
655 |
2.33e-7 |
SMART |
|
NEBU
|
656 |
686 |
1.49e-5 |
SMART |
|
NEBU
|
690 |
721 |
5.12e-4 |
SMART |
|
NEBU
|
724 |
754 |
8.12e-7 |
SMART |
|
NEBU
|
759 |
789 |
2.64e-6 |
SMART |
|
NEBU
|
795 |
825 |
3.48e-6 |
SMART |
|
NEBU
|
833 |
863 |
2.35e-3 |
SMART |
|
NEBU
|
868 |
898 |
6.11e-2 |
SMART |
|
NEBU
|
899 |
929 |
1.69e-4 |
SMART |
|
NEBU
|
934 |
964 |
3.88e-4 |
SMART |
|
NEBU
|
967 |
997 |
4e-6 |
SMART |
|
NEBU
|
1002 |
1032 |
4.22e-5 |
SMART |
|
NEBU
|
1038 |
1068 |
2.64e-6 |
SMART |
|
NEBU
|
1076 |
1106 |
3.68e-5 |
SMART |
|
NEBU
|
1111 |
1141 |
4.16e-4 |
SMART |
|
NEBU
|
1142 |
1172 |
1.1e-3 |
SMART |
|
NEBU
|
1177 |
1207 |
1.68e1 |
SMART |
|
NEBU
|
1210 |
1240 |
4.59e-6 |
SMART |
|
NEBU
|
1245 |
1275 |
4.06e-7 |
SMART |
|
NEBU
|
1281 |
1311 |
1.99e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.85e-1 |
SMART |
|
NEBU
|
1354 |
1384 |
1.39e-5 |
SMART |
|
NEBU
|
1385 |
1415 |
4.03e-2 |
SMART |
|
NEBU
|
1420 |
1450 |
1.76e-2 |
SMART |
|
NEBU
|
1453 |
1483 |
2.09e0 |
SMART |
|
NEBU
|
1488 |
1518 |
6.4e-5 |
SMART |
|
NEBU
|
1524 |
1554 |
8.63e-1 |
SMART |
|
NEBU
|
1562 |
1592 |
1.33e-2 |
SMART |
|
NEBU
|
1597 |
1627 |
1.84e-5 |
SMART |
|
NEBU
|
1628 |
1658 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095947
AA Change: Y642C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134
AA Change: Y642C
| Domain | Start | End | E-Value | Type |
|---|
|
NEBU
|
86 |
115 |
1.2e-6 |
SMART |
|
NEBU
|
120 |
150 |
9.1e-8 |
SMART |
|
NEBU
|
157 |
186 |
1.4e-6 |
SMART |
|
NEBU
|
226 |
255 |
1.8e-8 |
SMART |
|
NEBU
|
264 |
294 |
2.5e-5 |
SMART |
|
NEBU
|
300 |
330 |
7.8e-6 |
SMART |
|
NEBU
|
368 |
398 |
6e-11 |
SMART |
|
NEBU
|
403 |
433 |
1.1e-12 |
SMART |
|
NEBU
|
439 |
469 |
5.2e-9 |
SMART |
|
NEBU
|
473 |
503 |
1.1e-3 |
SMART |
|
NEBU
|
508 |
538 |
1.5e-9 |
SMART |
|
NEBU
|
539 |
569 |
1e-7 |
SMART |
|
NEBU
|
573 |
604 |
3.3e-6 |
SMART |
|
NEBU
|
607 |
637 |
5.4e-9 |
SMART |
|
NEBU
|
642 |
672 |
1.7e-8 |
SMART |
|
NEBU
|
678 |
708 |
2.3e-8 |
SMART |
|
NEBU
|
716 |
746 |
1.5e-5 |
SMART |
|
NEBU
|
751 |
781 |
4.1e-4 |
SMART |
|
NEBU
|
782 |
812 |
1.1e-6 |
SMART |
|
NEBU
|
817 |
847 |
2.6e-6 |
SMART |
|
NEBU
|
850 |
880 |
2.6e-8 |
SMART |
|
NEBU
|
885 |
915 |
2.7e-7 |
SMART |
|
NEBU
|
921 |
951 |
1.7e-8 |
SMART |
|
NEBU
|
959 |
989 |
2.4e-7 |
SMART |
|
NEBU
|
994 |
1024 |
2.7e-6 |
SMART |
|
NEBU
|
1025 |
1055 |
7.2e-6 |
SMART |
|
NEBU
|
1060 |
1090 |
1.1e-1 |
SMART |
|
NEBU
|
1093 |
1123 |
3e-8 |
SMART |
|
NEBU
|
1128 |
1158 |
2.6e-9 |
SMART |
|
NEBU
|
1164 |
1194 |
1.3e-3 |
SMART |
|
NEBU
|
1202 |
1232 |
1.2e-3 |
SMART |
|
NEBU
|
1237 |
1267 |
8.8e-8 |
SMART |
|
NEBU
|
1268 |
1298 |
2.7e-4 |
SMART |
|
NEBU
|
1303 |
1333 |
1.2e-4 |
SMART |
|
NEBU
|
1336 |
1366 |
1.4e-2 |
SMART |
|
NEBU
|
1371 |
1401 |
4.3e-7 |
SMART |
|
NEBU
|
1407 |
1437 |
5.6e-3 |
SMART |
|
NEBU
|
1445 |
1475 |
8.8e-5 |
SMART |
|
NEBU
|
1480 |
1510 |
1.2e-7 |
SMART |
|
NEBU
|
1511 |
1541 |
4.8e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166203
AA Change: Y723C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134
AA Change: Y723C
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
|
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
|
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
|
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
|
NEBU
|
520 |
550 |
1.06e-10 |
SMART |
|
NEBU
|
554 |
584 |
1.73e-1 |
SMART |
|
NEBU
|
589 |
619 |
2.33e-7 |
SMART |
|
NEBU
|
620 |
650 |
1.49e-5 |
SMART |
|
NEBU
|
654 |
685 |
5.12e-4 |
SMART |
|
NEBU
|
688 |
718 |
8.12e-7 |
SMART |
|
NEBU
|
723 |
753 |
2.64e-6 |
SMART |
|
NEBU
|
759 |
789 |
3.48e-6 |
SMART |
|
NEBU
|
797 |
827 |
2.35e-3 |
SMART |
|
NEBU
|
832 |
862 |
6.11e-2 |
SMART |
|
NEBU
|
863 |
893 |
1.69e-4 |
SMART |
|
NEBU
|
898 |
928 |
3.88e-4 |
SMART |
|
NEBU
|
931 |
961 |
4e-6 |
SMART |
|
NEBU
|
966 |
996 |
4.22e-5 |
SMART |
|
NEBU
|
1002 |
1032 |
2.64e-6 |
SMART |
|
NEBU
|
1040 |
1070 |
3.68e-5 |
SMART |
|
NEBU
|
1075 |
1105 |
4.16e-4 |
SMART |
|
NEBU
|
1106 |
1136 |
1.1e-3 |
SMART |
|
NEBU
|
1141 |
1171 |
1.68e1 |
SMART |
|
NEBU
|
1174 |
1204 |
4.59e-6 |
SMART |
|
NEBU
|
1209 |
1239 |
4.06e-7 |
SMART |
|
NEBU
|
1245 |
1275 |
1.99e-1 |
SMART |
|
NEBU
|
1283 |
1313 |
1.85e-1 |
SMART |
|
NEBU
|
1318 |
1348 |
1.39e-5 |
SMART |
|
NEBU
|
1349 |
1379 |
4.03e-2 |
SMART |
|
NEBU
|
1384 |
1414 |
1.76e-2 |
SMART |
|
NEBU
|
1417 |
1447 |
2.09e0 |
SMART |
|
NEBU
|
1452 |
1482 |
6.4e-5 |
SMART |
|
NEBU
|
1488 |
1518 |
8.63e-1 |
SMART |
|
NEBU
|
1526 |
1556 |
1.33e-2 |
SMART |
|
NEBU
|
1561 |
1591 |
1.84e-5 |
SMART |
|
NEBU
|
1592 |
1622 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167239
AA Change: Y724C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134
AA Change: Y724C
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
|
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
|
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
|
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
|
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
|
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
|
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
|
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
|
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
|
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
|
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
|
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
|
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
|
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
|
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
|
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
|
NEBU
|
932 |
962 |
4e-6 |
SMART |
|
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
|
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
|
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
|
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
|
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
|
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
|
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
|
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
|
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
|
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
|
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
|
NEBU
|
1385 |
1415 |
3.06e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169099
|
| SMART Domains |
Protein: ENSMUSP00000125889
Gene: ENSMUSG00000049134
| Domain | Start | End | E-Value | Type |
|---|
|
NEBU
|
32 |
61 |
2.83e-6 |
SMART |
|
NEBU
|
70 |
100 |
7.24e-4 |
SMART |
|
NEBU
|
105 |
135 |
3.46e-1 |
SMART |
|
NEBU
|
141 |
171 |
1.18e-3 |
SMART |
|
NEBU
|
209 |
239 |
8.97e-9 |
SMART |
|
NEBU
|
244 |
274 |
1.73e-10 |
SMART |
|
NEBU
|
280 |
310 |
8.12e-7 |
SMART |
|
NEBU
|
314 |
344 |
1.73e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.3608 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.2%
|
| Validation Efficiency |
94% (95/101) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
A |
T |
9: 15,202,066 (GRCm39) |
V152E |
probably damaging |
Het |
| Abca5 |
T |
G |
11: 110,167,331 (GRCm39) |
E1495A |
probably damaging |
Het |
| Abcc12 |
G |
A |
8: 87,261,627 (GRCm39) |
S668F |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,223,247 (GRCm39) |
T608S |
probably benign |
Het |
| Angel2 |
G |
A |
1: 190,673,187 (GRCm39) |
D255N |
probably benign |
Het |
| Apob |
T |
A |
12: 8,039,113 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,715,603 (GRCm39) |
R1349S |
probably damaging |
Het |
| Atp2b2 |
C |
T |
6: 113,770,656 (GRCm39) |
V418I |
probably damaging |
Het |
| Birc6 |
C |
A |
17: 74,930,741 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,658,519 (GRCm39) |
Y183F |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,987,266 (GRCm39) |
S352P |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,741,273 (GRCm39) |
S720P |
probably damaging |
Het |
| Cpa4 |
C |
T |
6: 30,579,657 (GRCm39) |
R155W |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,914 (GRCm39) |
I1176V |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,949,132 (GRCm39) |
E2959G |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,252,520 (GRCm39) |
I1734N |
possibly damaging |
Het |
| Dnajb7 |
A |
G |
15: 81,291,555 (GRCm39) |
Y261H |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,579,392 (GRCm39) |
|
probably benign |
Het |
| Dyrk3 |
A |
T |
1: 131,057,576 (GRCm39) |
V199E |
probably damaging |
Het |
| F2r |
G |
T |
13: 95,740,994 (GRCm39) |
C180* |
probably null |
Het |
| F5 |
A |
G |
1: 164,012,483 (GRCm39) |
S466G |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,235,445 (GRCm39) |
C677* |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,454,890 (GRCm39) |
S673P |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,667,406 (GRCm39) |
H639N |
probably benign |
Het |
| Fmnl3 |
G |
C |
15: 99,220,619 (GRCm39) |
|
probably benign |
Het |
| Foxa2 |
A |
G |
2: 147,885,481 (GRCm39) |
S270P |
probably damaging |
Het |
| Fxyd7 |
C |
T |
7: 30,746,793 (GRCm39) |
|
probably null |
Het |
| Gm5225 |
A |
G |
17: 24,243,032 (GRCm39) |
D67G |
probably benign |
Het |
| Grik3 |
G |
A |
4: 125,564,349 (GRCm39) |
E444K |
probably benign |
Het |
| Gsdma2 |
A |
G |
11: 98,540,009 (GRCm39) |
K44E |
probably damaging |
Het |
| Haus1 |
T |
A |
18: 77,849,770 (GRCm39) |
K130* |
probably null |
Het |
| Heg1 |
A |
G |
16: 33,556,028 (GRCm39) |
|
probably benign |
Het |
| Hormad2 |
A |
G |
11: 4,362,206 (GRCm39) |
|
probably benign |
Het |
| Hsd17b3 |
G |
A |
13: 64,206,403 (GRCm39) |
R300C |
possibly damaging |
Het |
| Irf5 |
T |
C |
6: 29,536,108 (GRCm39) |
F374S |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,059,903 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
A |
T |
11: 51,722,136 (GRCm39) |
L139Q |
probably damaging |
Het |
| Kif5c |
G |
A |
2: 49,642,251 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,083,918 (GRCm39) |
Y1387H |
probably benign |
Het |
| Larp4b |
A |
G |
13: 9,220,724 (GRCm39) |
R658G |
probably damaging |
Het |
| Mcph1 |
C |
T |
8: 18,838,264 (GRCm39) |
L729F |
probably benign |
Het |
| Me1 |
A |
T |
9: 86,536,720 (GRCm39) |
N118K |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,210,723 (GRCm39) |
L473S |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,635,921 (GRCm39) |
Y359N |
probably damaging |
Het |
| Morc2b |
A |
G |
17: 33,356,015 (GRCm39) |
S586P |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,980 (GRCm39) |
D310G |
probably benign |
Het |
| Mtmr7 |
A |
T |
8: 41,034,447 (GRCm39) |
|
probably benign |
Het |
| Mtus1 |
A |
G |
8: 41,451,514 (GRCm39) |
|
probably benign |
Het |
| Mus81 |
G |
T |
19: 5,536,552 (GRCm39) |
A138D |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,167,633 (GRCm39) |
I1073F |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,400,990 (GRCm39) |
K739* |
probably null |
Het |
| Nlrp4d |
T |
A |
7: 10,108,818 (GRCm39) |
K762N |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,774,514 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Or6c212 |
T |
A |
10: 129,558,846 (GRCm39) |
D189V |
probably damaging |
Het |
| Or8b56 |
T |
C |
9: 38,739,860 (GRCm39) |
L291P |
probably damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,160 (GRCm39) |
I250N |
probably damaging |
Het |
| Padi2 |
T |
C |
4: 140,653,550 (GRCm39) |
V180A |
probably benign |
Het |
| Papss2 |
C |
T |
19: 32,615,768 (GRCm39) |
R167* |
probably null |
Het |
| Pcbp2 |
T |
C |
15: 102,382,670 (GRCm39) |
|
probably benign |
Het |
| Per1 |
T |
A |
11: 68,992,706 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,514,094 (GRCm39) |
I860T |
probably damaging |
Het |
| Pkdrej |
G |
A |
15: 85,701,746 (GRCm39) |
Q1397* |
probably null |
Het |
| Plce1 |
T |
C |
19: 38,710,265 (GRCm39) |
V1133A |
probably benign |
Het |
| Pnma8a |
T |
G |
7: 16,694,625 (GRCm39) |
V160G |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,276,423 (GRCm39) |
C351R |
probably damaging |
Het |
| Qprt |
A |
T |
7: 126,708,269 (GRCm39) |
L54Q |
probably damaging |
Het |
| Raf1 |
C |
T |
6: 115,603,344 (GRCm39) |
S165N |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,701,433 (GRCm39) |
N1271S |
probably benign |
Het |
| Rnasel |
T |
A |
1: 153,630,258 (GRCm39) |
L258H |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,724,807 (GRCm39) |
D2502G |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,633,510 (GRCm39) |
S2081L |
probably damaging |
Het |
| Sc5d |
G |
T |
9: 42,171,155 (GRCm39) |
Y11* |
probably null |
Het |
| Slc25a29 |
A |
C |
12: 108,793,017 (GRCm39) |
L187R |
possibly damaging |
Het |
| Slc2a7 |
G |
A |
4: 150,252,721 (GRCm39) |
V454M |
probably benign |
Het |
| Slco1b2 |
A |
T |
6: 141,615,114 (GRCm39) |
T340S |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,976,172 (GRCm39) |
N153S |
possibly damaging |
Het |
| Snx1 |
C |
A |
9: 65,995,821 (GRCm39) |
E516* |
probably null |
Het |
| Sptlc2 |
T |
C |
12: 87,403,454 (GRCm39) |
D115G |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,464,736 (GRCm39) |
N67S |
probably damaging |
Het |
| Styxl2 |
A |
C |
1: 165,927,270 (GRCm39) |
S781A |
probably benign |
Het |
| Swap70 |
G |
A |
7: 109,872,489 (GRCm39) |
R368H |
probably benign |
Het |
| Tcaf3 |
T |
C |
6: 42,568,284 (GRCm39) |
K691E |
probably benign |
Het |
| Tmco4 |
T |
C |
4: 138,781,231 (GRCm39) |
F465S |
probably damaging |
Het |
| Tmem245 |
A |
G |
4: 56,926,213 (GRCm39) |
S290P |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,894,416 (GRCm39) |
T972A |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,285,898 (GRCm39) |
S527R |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,409,621 (GRCm39) |
D443G |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,194,039 (GRCm39) |
|
probably null |
Het |
| Trim42 |
A |
T |
9: 97,245,456 (GRCm39) |
I448N |
possibly damaging |
Het |
| Ttll9 |
G |
A |
2: 152,825,054 (GRCm39) |
V78M |
probably damaging |
Het |
| Vav1 |
C |
T |
17: 57,603,039 (GRCm39) |
L88F |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,423,301 (GRCm39) |
D207G |
probably damaging |
Het |
| Wdsub1 |
A |
G |
2: 59,707,009 (GRCm39) |
|
probably null |
Het |
| Zfp799 |
A |
G |
17: 33,040,009 (GRCm39) |
W85R |
possibly damaging |
Het |
| Zfp839 |
A |
T |
12: 110,825,203 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nrap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Nrap
|
APN |
19 |
56,361,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00570:Nrap
|
APN |
19 |
56,326,545 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00946:Nrap
|
APN |
19 |
56,329,058 (GRCm39) |
splice site |
probably null |
|
|
IGL01070:Nrap
|
APN |
19 |
56,317,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Nrap
|
APN |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Nrap
|
APN |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01290:Nrap
|
APN |
19 |
56,350,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01352:Nrap
|
APN |
19 |
56,368,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01372:Nrap
|
APN |
19 |
56,317,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01395:Nrap
|
APN |
19 |
56,350,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Nrap
|
APN |
19 |
56,377,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01734:Nrap
|
APN |
19 |
56,338,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Nrap
|
APN |
19 |
56,377,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Nrap
|
APN |
19 |
56,309,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Nrap
|
APN |
19 |
56,370,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Nrap
|
APN |
19 |
56,333,951 (GRCm39) |
nonsense |
probably null |
|
|
IGL02864:Nrap
|
APN |
19 |
56,338,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Nrap
|
APN |
19 |
56,333,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Nrap
|
APN |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Nrap
|
APN |
19 |
56,335,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03084:Nrap
|
APN |
19 |
56,353,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Nrap
|
APN |
19 |
56,330,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03272:Nrap
|
APN |
19 |
56,334,000 (GRCm39) |
intron |
probably benign |
|
|
IGL03389:Nrap
|
APN |
19 |
56,340,148 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0374:Nrap
|
UTSW |
19 |
56,340,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Nrap
|
UTSW |
19 |
56,345,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0828:Nrap
|
UTSW |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Nrap
|
UTSW |
19 |
56,333,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Nrap
|
UTSW |
19 |
56,315,725 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1459:Nrap
|
UTSW |
19 |
56,372,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1616:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Nrap
|
UTSW |
19 |
56,323,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Nrap
|
UTSW |
19 |
56,343,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Nrap
|
UTSW |
19 |
56,323,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1792:Nrap
|
UTSW |
19 |
56,367,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Nrap
|
UTSW |
19 |
56,372,487 (GRCm39) |
unclassified |
probably benign |
|
|
R1972:Nrap
|
UTSW |
19 |
56,345,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Nrap
|
UTSW |
19 |
56,372,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2258:Nrap
|
UTSW |
19 |
56,310,394 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2448:Nrap
|
UTSW |
19 |
56,310,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3034:Nrap
|
UTSW |
19 |
56,352,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Nrap
|
UTSW |
19 |
56,368,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3964:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Nrap
|
UTSW |
19 |
56,369,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4182:Nrap
|
UTSW |
19 |
56,338,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Nrap
|
UTSW |
19 |
56,339,913 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4573:Nrap
|
UTSW |
19 |
56,330,770 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4603:Nrap
|
UTSW |
19 |
56,323,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4689:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4749:Nrap
|
UTSW |
19 |
56,368,669 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4845:Nrap
|
UTSW |
19 |
56,339,902 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4937:Nrap
|
UTSW |
19 |
56,335,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Nrap
|
UTSW |
19 |
56,366,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5181:Nrap
|
UTSW |
19 |
56,333,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5202:Nrap
|
UTSW |
19 |
56,323,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Nrap
|
UTSW |
19 |
56,308,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5301:Nrap
|
UTSW |
19 |
56,367,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Nrap
|
UTSW |
19 |
56,370,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Nrap
|
UTSW |
19 |
56,310,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5631:Nrap
|
UTSW |
19 |
56,342,553 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5754:Nrap
|
UTSW |
19 |
56,377,916 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5799:Nrap
|
UTSW |
19 |
56,330,601 (GRCm39) |
nonsense |
probably null |
|
|
R5899:Nrap
|
UTSW |
19 |
56,329,006 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5910:Nrap
|
UTSW |
19 |
56,330,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5994:Nrap
|
UTSW |
19 |
56,340,031 (GRCm39) |
nonsense |
probably null |
|
|
R6124:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6149:Nrap
|
UTSW |
19 |
56,377,885 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6182:Nrap
|
UTSW |
19 |
56,350,130 (GRCm39) |
missense |
probably benign |
|
|
R6245:Nrap
|
UTSW |
19 |
56,368,307 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6245:Nrap
|
UTSW |
19 |
56,342,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Nrap
|
UTSW |
19 |
56,308,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6274:Nrap
|
UTSW |
19 |
56,350,153 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6340:Nrap
|
UTSW |
19 |
56,335,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Nrap
|
UTSW |
19 |
56,339,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6734:Nrap
|
UTSW |
19 |
56,333,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6770:Nrap
|
UTSW |
19 |
56,370,969 (GRCm39) |
splice site |
probably null |
|
|
R6812:Nrap
|
UTSW |
19 |
56,340,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Nrap
|
UTSW |
19 |
56,368,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Nrap
|
UTSW |
19 |
56,333,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Nrap
|
UTSW |
19 |
56,366,567 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7313:Nrap
|
UTSW |
19 |
56,330,700 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7515:Nrap
|
UTSW |
19 |
56,354,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7662:Nrap
|
UTSW |
19 |
56,308,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7819:Nrap
|
UTSW |
19 |
56,323,720 (GRCm39) |
missense |
probably benign |
|
|
R7836:Nrap
|
UTSW |
19 |
56,338,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7895:Nrap
|
UTSW |
19 |
56,342,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8041:Nrap
|
UTSW |
19 |
56,352,768 (GRCm39) |
nonsense |
probably null |
|
|
R8046:Nrap
|
UTSW |
19 |
56,308,683 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8066:Nrap
|
UTSW |
19 |
56,342,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8129:Nrap
|
UTSW |
19 |
56,355,068 (GRCm39) |
splice site |
probably null |
|
|
R8188:Nrap
|
UTSW |
19 |
56,325,010 (GRCm39) |
nonsense |
probably null |
|
|
R8323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8353:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Nrap
|
UTSW |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Nrap
|
UTSW |
19 |
56,323,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Nrap
|
UTSW |
19 |
56,352,843 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8872:Nrap
|
UTSW |
19 |
56,308,627 (GRCm39) |
makesense |
probably null |
|
|
R8980:Nrap
|
UTSW |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Nrap
|
UTSW |
19 |
56,340,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Nrap
|
UTSW |
19 |
56,310,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9235:Nrap
|
UTSW |
19 |
56,330,760 (GRCm39) |
nonsense |
probably null |
|
|
R9323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9327:Nrap
|
UTSW |
19 |
56,340,100 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9329:Nrap
|
UTSW |
19 |
56,350,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Nrap
|
UTSW |
19 |
56,330,632 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9517:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9639:Nrap
|
UTSW |
19 |
56,333,948 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9657:Nrap
|
UTSW |
19 |
56,352,377 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9709:Nrap
|
UTSW |
19 |
56,317,453 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9709:Nrap
|
UTSW |
19 |
56,317,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Nrap
|
UTSW |
19 |
56,323,652 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Nrap
|
UTSW |
19 |
56,333,949 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Nrap
|
UTSW |
19 |
56,333,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Nrap
|
UTSW |
19 |
56,326,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTTCCAGGTCAGGACGGCAGAG -3'
(R):5'- CATCCTGTGGTCATTGTGCCTAGC -3'
Sequencing Primer
(F):5'- acatccaagagtaaacgccc -3'
(R):5'- TTTTAATGGACAGCCCACCCTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation